ClinVar Miner

Submissions for variant NC_012920.1(MT-ND1):m.3670G>A

dbSNP: rs1603219074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000853692 SCV000996722 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.3670G>A (YP_003024026.1:p.Ala122Thr) variant in MTND1 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM10, PP4, PP6, PP7
MGZ Medical Genetics Center RCV000993795 SCV001146969 uncertain significance Ptosis; Gait disturbance; Dysarthria; Abnormality of eye movement; Increased circulating lactate concentration; Abnormal CSF lactate concentration 2019-12-09 criteria provided, single submitter clinical testing heteroplasmic in muscle 90%, not detected in blood sample of the mother, PM2, PM10, PP4, PP6 (Modified ACMG Guidelines Mito Lab Baylor College)

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